Canonical Allele Identifier: CA350694992

Gene: DES

Linked Data

• dbSNP Id: rs1954444399
• gnomAD v4: 2-219421526-A-G
• MyVariant Identifiers: chr2:g.220286248A>G (hg19) ; chr2:g.219421526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219421526A>G , CM000664.2:g.219421526A>G	GRCh38
NC_000002.11:g.220286248A>G , CM000664.1:g.220286248A>G	GRCh37
NC_000002.10:g.219994492A>G	NCBI36
NG_008043.1:g.8150A>G , LRG_380:g.8150A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477226.6:n.684A>G
ENST00000683013.1:n.598A>G
ENST00000373960.4:c.1210A>G MANE Select	ENSP00000363071.3:p.Thr404Ala
ENST00000373960.3:c.1210A>G	ENSP00000363071.3:p.Thr404Ala
ENST00000477226.5:n.682A>G
ENST00000492726.1:n.605A>G
NM_001927.3:c.1210A>G , LRG_380t1:c.1210A>G	NP_001918.3:p.Thr404Ala
NM_001927.4:c.1210A>G MANE Select	NP_001918.3:p.Thr404Ala
NM_001382708.1:c.1207A>G	NP_001369637.1:p.Thr403Ala
NM_001382709.1:c.778A>G	NP_001369638.1:p.Thr260Ala
NM_001382710.1:c.1141A>G	NP_001369639.1:p.Thr381Ala
NM_001382711.1:c.1189A>G	NP_001369640.1:p.Thr397Ala
NM_001382712.1:c.1210A>G	NP_001369641.1:p.Thr404Ala
NM_001382713.1:c.940A>G	NP_001369642.1:p.Thr314Ala